4Concerns About the Use of ResidualNewborn Screening Samples

Important Points Highlighted by Speakers

Concerns about the use of residual newborn screening samples center on discrimination, inadequate security, loss of autonomy, unfair economic returns, the potential for abuses by law enforcement, and inappropriate governmental control.

Recent events have increased the visibility of newborn screening programs and have demonstrated the potential for standard practices to raise concerns and generate opposition.

Concerns about privacy are especially prevalent and need to be resolved in order for research to progress.

State laws and regulations address some of these concerns but leave others unresolved and vary greatly from state to state.

Transparency and oversight are essential to counter concerns about the use of residual newborn screening samples.

SEPARATING CONCERNS FROM ISSUES

The concerns that people feel about newborn screening should be separated from the issues surrounding screening, said Ann Waldo, senior counsel at Genetic Alliance. The concerns need to be understood first and then they can be analyzed to identify the issues that need to be addressed.

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4
Concerns About the Use of Residual
Newborn Screening Samples
Important Points Highlighted by Speakers
• Concerns about the use of residual newborn screening samples
center on discrimination, inadequate security, loss of autonomy,
unfair economic returns, the potential for abuses by law enforce-
ment, and inappropriate governmental control.
• Recent events have increased the visibility of newborn screen-
ing programs and have demonstrated the potential for standard
practices to raise concerns and generate opposition.
• Concerns about privacy are especially prevalent and need to be
resolved in order for research to progress.
• State laws and regulations address some of these concerns but leave
others unresolved and vary greatly from state to state.
• Transparency and oversight are essential to counter concerns
about the use of residual newborn screening samples.
SEPARATING CONCERNS FROM ISSuES
The concerns that people feel about newborn screening should be
separated from the issues surrounding screening, said Ann Waldo, senior
counsel at Genetic Alliance. The concerns need to be understood first and
then they can be analyzed to identify the issues that need to be addressed.

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0 USING RESIDUAL NEWbORN SCREENING SAMpLES
The number one concern that parents feel, in Waldo’s opinion, is pro-
tectiveness toward children. “Every parent understands this, particularly if
you have a newborn,” she said. “If you see something that you think might
harm your children, you are going to immediately feel opposition to that.”
Some of the fears about potential harm to children are vague and incho-
ate, but that does not mean that they are invalid. Sometimes people have a
vague sense of unease for a good reason.
The sense of the unknown that surrounds newborn screening and
genetic testing in general can generate suspicion and distrust. “If I were a
parent trying to make this decision myself, that would be one of my bigger
concerns,” Waldo said. “I don’t know what I don’t know and I’m a little
afraid of what I don’t know.” Furthermore, science and society have been
changing dramatically in recent years and these changes can raise new issues
that were not previously foreseen.
A specific concern cited by parents in informal discussions is the fear of
discrimination. Perhaps if genetic or biological information about a child
exists in a database, they say, it will be used to discriminate against that child.
The Genetic Information Nondiscrimination Act (GINA) protects against
some forms of discrimination, but it has limitations and is not widely known,
so it does not eliminate the fears that people have. Furthermore, even if
it were possible to guarantee that a child would never be discriminated
against—which is not guaranteed under GINA—sensitive information could
still be used to embarrass, humiliate, or ostracize a child.
Parents have raised many other concerns regarding newborn screening
programs. The question of a child’s paternity can become an issue if the
results of tests are made known. Or, if a first child is born with a disorder
and a family makes strenuous efforts to avoid having another child with
the same condition, what message does that give to the first child? “Is it
in effect telling the child that he is a regrettable mistake and you are going
to redouble your efforts to make sure you don’t have another one like
him or her?” Waldo asked. “What does that do to a child’s self-esteem?”
Genetics research has the potential to make many decisions surrounding
reproduction difficult. But “the train is unstoppable,” Waldo said. “Even
if all newborn screening programs disappeared, which would be a tragedy,
genetics is going to be advancing, and we are going to have to face these
tough questions about what to do with knowledge.”
Newborn screening programs also raise difficult issues concerning
autonomy, control, and choice. In the preface of the Texas lawsuit, one of
the plaintiffs was repeatedly quoted as saying, “If they’d only asked me for
permission, I would have said yes.” Waldo expressed some puzzlement over
this statement. If parents fear harm to their children from information being
stored, then why would they consent to storage? Nevertheless, the desire for
choice and control can take precedence in decision making. “People want to

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CONCERNS AbOUT THE USE OF RESIDUAL SAMpLES
be asked. Whether someone else thinks it’s reasonable or not, [consent is] a
very real concern.” (Issues of consent are discussed in Chapter 5.)
Some state health departments have been accused, rightly or wrongly,
of being overly cavalier about the use of residual dried blood spots, accord-
ing to Waldo. Even if completely unfounded, such attitudes can easily fuel
antigovernment sentiment.
Forensic uses of residual dried blood spots are another focus of atten-
tion and concern. People sometimes ask in public meetings whether dried
blood spots can be used to obtain convictions—or exonerations—of fam-
ily members. The expressed interest of some government agencies in using
remaining newborn screening samples for forensics has raised the profile
of this issue, said Waldo.
Waldo expressed reservations, as a former privacy officer at two large
companies, about inadequate security. Making information secure takes
considerable thought and effort. When samples are being used for research,
either the state or the recipients of samples might have inadequate informa-
tion security. Even if a university researcher is careful not to share informa-
tion about the samples, for example, someone else at the university might
hack into the researcher’s database.
The use of residual newborn screening samples and information gen-
erated from those samples are not subject to clear-cut standards or laws,
Waldo said. Repositories of residual newborn screening samples may or
may not be covered under the Health Insurance Portability and Account-
ability Act (HIPAA), depending on whether the holder is within HIPAA’s
scope, so HIPAA provisions that were developed to balance competing
needs, such as access to data in litigation, do not always protect newborn
screening samples and information. Although there are constitutional limits
on the use of newborn screening samples, in general the laws governing
these materials are “unclear and not prescriptive,” Waldo said.
The proprietary rights surrounding residual newborn screening sam-
ples also remain largely undefined. As has been discussed with the case of
Henrietta Lacks, some people ask who will benefit from the research being
done with their biological materials. If the public and sick children are the
primary beneficiaries, people may have no concerns. But when large amounts
of money and proprietary research are involved, people sometimes raise ques-
tions about the disposition of intellectual property and flows of money.
Related to questions concerning money are payments that states
might receive from outside entities for furnishing blood spots for research
or other purposes. This issue has been raised in media reports from
Texas. Although the payments in Texas were very small—amounting to
somewhere between $2 and $4 a blood spot, which the state considered
nominal handling fees used to recover part of the taxpayers’ expenses in
providing samples to others—perceptions can be damaging. “That nomi-

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USING RESIDUAL NEWbORN SCREENING SAMpLES
nal administrative fee gets presented as, ‘You sold my baby’s blood. You
bartered my [baby’s] blood.’ Headline writers have been doing a great job
of finding these mellifluous headlines in Texas,” Waldo said.
CONCERNS AND THE POTENTIAL FOR HARM
Other speakers also cited concerns raised by members of the public
about newborn screening programs. Sharon Kardia said that whenever
she meets with parents or other members of the public, she gets “a whole
storm of questions and concerns that indicate we haven’t done the necessary
education,” such as: Who owns the spots? Who is going to make money
from them? Why didn’t you ask me for permission to use them? What will
we get in return for their use? (Parental and public education is the topic
of Chapter 6.) Kardia also noted that in Michigan a frequent concern is
that the use of residual dried blood spots will undermine community-based
research networks, which are very active in investigating local health con-
cerns in that state. If information is centralized, Kardia asked, will these
networks disband and no longer have a say in health research?
Kelly Edwards, associate professor in the Department of Bioethics and
Humanities at the University of Washington School of Medicine, also used a
storm metaphor in describing public concerns. A “perfect storm” of stories in
the media has focused public attention on this issue, Edwards said. A recent
article in the New York Times was entitled, “Where’d You Go with My
DNA?” (Harmon, 2010). The recent publication of a book about Henrietta
Lacks (Skloot, 2010) and the return of genetic samples to the Havasupai
tribe in Arizona, though both unrelated to newborn screening, have raised
the public profile of screening. The family of Henrietta Lacks was proud that
cells taken from their mother had led to immense contributions to science and
medicine, but they were angry that no one had talked to them about what
was happening and that many people were benefiting from this research while
they could not afford health care. In the Havasupai case, there was a discon-
nect between the expectations of the different parties, Edwards said. Mem-
bers of the tribe expected the samples to be used only for diabetes research,
while the researchers expected that they would be able to do other kinds of
research if the samples could not be linked to individuals. Thus, these two
experiences illustrate what can happen when people manage genetic samples
for purposes that the donors and their families do not understand and with
no communication about what is happening to those samples.
Several important lessons can be drawn from these episodes, Edwards
said. First, regulations currently provide the floor for what can be done, not
the ceiling. Other standards may be needed to provide additional guidance.
The researchers who were involved in the Henrietta Lacks and Havasupai

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CONCERNS AbOUT THE USE OF RESIDUAL SAMpLES
cases were following current regulations, “but clearly we need to go beyond
that if we are going to build and sustain public trust.”
Another lesson is that “business as usual” practices can cause harm.
Researchers are not bad people who have intention to harm. Yet their
research and public health practices can cause harm that was unanticipated
or overlooked.
The way to avoid such harm, Edwards said, is to get a more diverse
group of people offering input into decisions about how to manage samples
and what kind of work should go forward. These decisions should not be
made by a narrow group of people, because a narrow group cannot imagine
what harm looks like to other people at other times.
CONCERNS ABOuT PRIVACy AND SECuRITy
Sharon Terry, president and CEO of Genetic Alliance, elaborated on
the many concerns involving privacy and security associated with residual
newborn screening samples. Privacy is being redefined in the digital age,
she said, when information about people is readily accessible on social net-
working sites. People are interested in sharing such information, but most
are also interested in controlling it.
Perspectives on privacy vary widely. Terry cited the views of James
Heywood, co-founder of the organization PatientsLikeMe, who contends
that people have a moral imperative to share their health information.
PatientsLikeMe has created a platform for collecting and sharing outcome-
based patient data in order to benefit people with life-changing diseases.
From Heywood’s perspective, as members of the human family, all of us
should care enough about others to share our health information and pri-
vacy should be a secondary concern.
On the other hand, Terry observed, many people have a protectionist view
of their health information. She shared a quote by a nurse and new mother:
“We were appalled when we found out. Why do they need to store my baby’s
DNA indefinitely? Something on there could affect her ability to get a job later
on, or get health insurance.” According to Terry, “we need to hear the spec-
trum [of opinion]. We also need to figure out how to balance all the needs.”
Many parents are interested in being involved in research, especially
translational research designed to yield advances in health, Terry has learned
from her own evaluation of studies. But these parents also express concerns
about the privacy implications of participating in research. According to
a survey conducted by Harris/Westin,1 63 percent of people would permit
1 The Harris Poll® March 26, 2007, “Many U.S. Adults Are Satisfied with Use of Their Per-
sonal Health Information—Significant minority still withholds information from health provid-
ers due to worries about security of medical data” Harris Interactive Inc. All rights reserved.

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4 USING RESIDUAL NEWbORN SCREENING SAMpLES
their personal health information to be used for research only if various
privacy-oriented conditions are met. The message people give, Terry said,
is that “we need to have some say about what happens.”
The context of information is critical, Terry added. It is important
where the information is created, where it exists, and who sees it. People
make calculated decisions about their privacy, as when they are posting
information on a social networking site or doing online banking. People
do not understand all of the risks, but they decide that the benefits are
worth the risks that they do understand. An additional factor for newborn
screening is that parents are making decisions for their children, raising the
question of whether children should be able to revisit those decisions and
make different ones when they turn 18.
The Genetic Information Nondiscrimination Act protects people from
employment and insurance discrimination. It does not protect them from
discrimination in the areas of long-term care or life insurance. It thus offers
some protections, Terry said, but not blanket protections.
Privacy and security will always depend in part on trust. This factor
is hard to measure, regulate, or codify, yet it is essential for public health
departments and researchers to do their jobs. Trust also influences how
people interact and the messages they take away from those interactions.
Wild rhetoric and blanket statements may reveal how someone feels, but
they also can undermine trust, Terry said. Public health departments are not
running amok and betraying people’s trust. They are not blatantly violating
privacy policies. Researchers do not care only about samples. The conversa-
tion needs to be nuanced and people need to trust each other if they are to
move toward a solution that does not abandon research.
Privacy issues can make translational research difficult, but addressing
them is essential. “There is dying going on right now,” Terry said. “Every
one of us knows somebody who could have benefited by research having
been sped up.” Yet difficult trade-offs arise. Is one dying child worth the
privacy risks to many others, or even one other? Should privacy protection
preferences be allowed to delay translational research for a given number of
years? What are the responsibilities of individuals, nations, and all human
beings? “Those are all really, really hard questions,” Terry said, “and trans-
lational research runs into them all the time.”
STATE LAWS AND PRACTICES
As of May 2010, at least 18 states had laws or regulations that specifi-
cally addressed both the storage and use of newborn screening samples:
California, Indiana, Iowa, Maine, Massachusetts, Michigan, Minnesota,
Mississippi, Missouri, Nebraska, New Hampshire, North Dakota, Okla-
homa, South Carolina, Texas, Utah, Washington, and Wisconsin. Alissa
Johnson of Johnson Policy Consulting provided an overview of state poli-

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CONCERNS AbOUT THE USE OF RESIDUAL SAMpLES
cies and practices and described several legislative initiatives directed toward
newborn screening programs.
State policies and practices regarding the storage and use of residual
dried blood spots vary widely. Some allow research uses if the research is
conducted in accordance with established requirements. Others ban some
research uses, while one—Mississippi—strictly prohibits the use of residual
dried newborn screening specimens for research or purposes other than
confirmation of test results. Other states probably have positions regard-
ing the use of residual newborn screening samples, Johnson said, but these
policies are not readily obtainable from available materials.
Some states allow parents to determine how samples from their infants
may be used. For example, in California and Maine, where researchers
may have access to specimens for approved studies, a person can prohibit
the use of samples for program evaluation or research by submitting a
written request. Parents in several states, including Michigan, Minnesota,
South Carolina, Texas, and Washington, can also request the destruction
of residual dried blood specimens after a defined period when the samples
are no longer needed for screening purposes. Most state policies that permit
research use of residual dried blood samples employ an opt-out approach,
with samples being released for approved research unless parents indicate
otherwise, but in Nebraska and New Hampshire researchers must obtain
written consent from the parents of individuals whose specimens are being
requested. In some states children, once they reach the age of 18, can
request the destruction or return of a specimen.
Some states limit secondary use of residual dried blood specimens
to research in specific study areas. A few permit research only on issues
related to newborn screening. Wisconsin confines secondary use of samples
to research and evaluation purposes related to congenital and metabolic
disorders or laboratory procedures. Massachusetts offers participation in
pilot studies of conditions that may be added to the state newborn screen-
ing panel in the future. Other states permit a slightly broader range of
research. Iowa, for example, allows studies related to newborn screening,
studies that can affect the health of a child from whom no other specimens
are available, and studies that can inform existing public health surveillance
activities. In some states, the language of policies or laws refers simply to
medical research as a permissible use of newborn screening samples (see
Box 4-1 for examples of permitted uses).
State laws or regulations on the secondary use of residual newborn
screening samples typically only allow access by health department person-
nel, laboratory personnel, or researchers and other individuals who have
been granted departmental approval. When access to specimens is granted
to researchers, policies often state that the health department is responsible
for the preparation of specimens and other information approved for the
study. In California, Missouri, Nebraska, and North Dakota, the state

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USING RESIDUAL NEWbORN SCREENING SAMpLES
BOX 4-1
Example of Permitted Uses
In the state of Michigan, the Michigan Department of Community Health publishes
a booklet that explains newborn screening and describes the kinds of research
permitted with dried blood samples. It states, “The only studies that have been
done and are allowed in the future are for medical or public health research. Some
examples of studies that have been done include: (1) studying the incidence of
different gene variants for an inherited condition (hereditary hemochromatosis);
(2) developing additional laboratory screening methods (sickle cell diseases); and
(3) searching for new disease markers (childhood leukemia).”a
aFrom “Newborn Screening Dried Blood Spots and Michigan’s BioTrust Initiative.” Available at
www.michigan.gov/documents/mdch/FAQbooklet_269087_7.pdf (accessed May 20, 2010).
health department may bill researchers for these services. States that address
research use also may require approval by an IRB and adherence to federal
regulations governing the protection of human subjects.
Some states prohibit access to personally identifiable information if
specimens are released, including Indiana, South Carolina, and Texas. Poli-
cies in Iowa and North Dakota require researchers to include in their study
proposals a justification for accessing personally identifiable information.
In California, Maine, Texas, Utah, and Washington, researchers who wish
to access personally identifiable information associated with specimens may
need to obtain consent from parents. In California, an IRB may modify the
usual informed consent requirements for the release of personal informa-
tion if it determines that the research has such public health value that the
waiver is justifiable. State laws and policies may also dictate the use of
anonymized or coded and double-blinded studies in research using residual
newborn screening samples. In Michigan, for example, samples are sent to
a biotrust and then are coded before they go to researchers.
Some laws and regulations dictate how long samples are to be stored,
with retention periods ranging from about one month to an indefinite length
of time. Similarly, policies in at least eight states require that information
provided to parents regarding the newborn screening program discuss stor-
age and use of residual dried blood specimens.
LEGAL CONCERNS REGARDING THE
uSE OF RESIDuAL DRIED BLOOD SPOTS
The issues surrounding state laws have become more prominent, said Ellen
Wright Clayton, the Rosalind E. Franklin Professor of Genetics and Health Pol-

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CONCERNS AbOUT THE USE OF RESIDUAL SAMpLES
icy and director of the Center for Biomedical Ethics and Society at the Vander-
bilt University Medical Center, because the types of research that can be done
using residual dried blood spots have increased dramatically in recent years.
Research done in the past to develop new and better tests could be considered
quality improvement in newborn screening. However, new technologies have
made it possible to do much more with residual newborn screening samples,
such as longitudinal epidemiological studies with links to other sources of
data. “It is a very different kind of research that we’re talking about, mov-
ing away from the traditional issues that exist just within newborn screen-
ing to much broader and more expansive research,” Clayton said.
The Office for Human Research Protections does not consider research
that involves only coded private information or coded specimens to involve
human subjects, as defined by federal regulations, as long as the follow-
ing conditions are met: (1) The private information or specimens were not
collected specifically for the currently proposed research project through
an interaction or intervention with living individuals; and (2) the investiga-
tors cannot readily ascertain the identity of the individuals to whom the
coded private information or specimens pertain because of such factors as
an agreement with a key holder or IRB or legal limits. These two factors
are critical considerations for newborn screening programs, Clayton said.
Human subjects research requires one to consider the risks and benefits as
well as whether informed consent is required and whether it can be waived
or limited in any way. If these provisions do not apply, research using
residual newborn screening samples need not take these steps.
Clayton used Utah as an example of a state where several issues are asso-
ciated with state law. State regulations in Utah assert that dried blood spots
become the property of the Department of Health. However, Clayton pointed
out that property is not a unified thing. It is a body of rights and responsibili-
ties that depend on context. “Just because I have a property interest in my
house does not mean that I am free to burn it up to the ground. There are
limits on what I am free to do.” The argument that blood spots belong to
someone and are property is “unhelpful and obfuscating,” Clayton said.
The Utah regulation also requires the department to tell parents about
its policy on retention and use, allows the use of residual blood spots for
newborn screening quality assessment activities, and permits the release of
blood spots for research if the following conditions are met2:
1. The person proposing to conduct the research applies in writing to
the department for approval to perform the research. The applica-
tion shall include a written protocol for the proposed research,
2 Utah Admin. Code § R398-1-15 (2010) available at www.rules.utah.gov/publicat/code/
r398/r398-001.htm (accessed August 26, 2010).

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the person’s professional qualifications to perform the proposed
research, and other information if needed and requested by the
department. When appropriate, the proposal will then be submit-
ted to the department’s internal review board for approval.
2. The department shall de-identify blood spots it releases unless it
obtains informed consent of a parent or guardian to release identifi-
able samples. (De-identification is discussed in the next chapter.)
3. All research must first be approved by the department’s internal
review board.
These kinds of limitations are useful, Clayton said, because they address
issues of oversight and transparency. In Texas, for example, a lawsuit made
claims based on search and seizure, privacy, and liberty provisions in
the U.S. Constitution, and a settlement was reached in part because of a
determination that at least some of these claims were going to go forward
as a matter of law. In this case, information released under a Freedom of
Information Act request revealed that a proposed transfer of samples to the
Armed Forces Institute of Pathology was not publicized because it raised
ethical issues. “Anytime you don’t want to talk about something, you had
better think about it,” said Clayton. “That’s a life message that I give to
everybody every day.”
The Havasupai case is another example where oversight and trans-
parency were slighted. In this case, the samples had been collected to do
research on diabetes, but they were also used to study schizophrenia and,
ultimately, ancestry. The investigator was quoted in the New York Times
as saying that she was just doing good science. But Native American
populations have always been sensitive about using their blood samples
for ancestry testing, Clayton observed. “There needs to be oversight and
accountability to make sure that those kinds of decisions—which are just
not good decisions—do not happen.” Most of the decisions made about the
use of residual dried blood spots would be sustained with oversight. “But
all it takes is one screw-up and you’re toast.”
Finally, Clayton raised the issue of using DNA for forensics, which she
described as “the elephant in the middle of the room.” Sometimes states
have suggested that they would like to retain samples in order to help
identify abducted children. “As a family law professor for many years, I
have a really clear sense that the overwhelming majority of children who
are abducted, are abducted in the context of messy divorces,” Clayton said.
“So if that is what your concern is, the answer is to collect DNA at that
point, not on everybody.”
Some have suggested that residual newborn screening samples could
be collected for a comparison database. But this raises issues of having a
genetic database of the entire populace that could be accessed by the police,

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CONCERNS AbOUT THE USE OF RESIDUAL SAMpLES
by Homeland Security, or by other entities. There is a general consensus
that it is not appropriate to demand DNA from people for a general data-
base that will be used for forensics purposes, Clayton said.
People working with residual newborn screening samples need to be
very clear about what they are going to use samples for and what they will
not use them for, Clayton said. “I am not surprised that people are not
happy about the idea of the state holding on to DNA samples for a long
time and not telling them what they’re going to do with them.” It would be
legally complicated for a state to design a mechanism that would forbid the
use of samples for forensic purposes. For example, it would be difficult for
a legislature to pass a law requiring newborn blood spots to be retained for
quality assurance and research but did not allow law enforcement to access
them under any circumstances. Or it is possible that the Department of
Homeland Security might claim to have a right to access whatever samples
a state holds. Some people argue that the police ought to have access to
newborn blood spots to identify someone who is guilty. “Whether the states
are going to be able to navigate that territory in a way that protects them
both from the police in their own states as well as from federal agents is a
tough, tough issue.”
Waldo added that states do have some ways of protecting sensitive
information from law enforcement use. For example, a state can adopt an
official policy to never honor an informal law enforcement request for data,
which is where most of the abuses occur. Repositories and other biobanks
can also do what HIPAA requires. Under HIPAA, if an institution gets a
request for data, one of two things must be done before the request is hon-
ored. Either the patients must be notified with sufficient time to go to court
and seek an order to quash or limit the request themselves, or the institution
must take legal action to quash the request. This is not an illusory protec-
tion, Waldo said. Hospitals and insurance companies have challenged law
enforcement agencies in court with great success.
In the legal sense, Clayton concluded, “to take the research issue out
of context and not look at all the other concerns about DNA collections
[would be] a mistake” which could jeopardize the entire newborn screen-
ing system.

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